Zobrazeno 1 - 10
of 3 967
pro vyhledávání: '"DIAGNOSTIC YIELD"'
Autor:
Matheus V. M. B. Wilke, Eric W. Klee, Radhika Dhamija, Fernando C. Fervenza, Brittany Thomas, Nelson Leung, Marie C. Hogan, Megan M. Hager, Kayla J. Kolbert, Jennifer L. Kemppainen, Elle C. Loftus, Katie M. Leitzen, Carolyn R. Vitek, Tammy McAllister, Konstantinos N. Lazaridis, Filippo Pinto e Vairo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic approach is debated. Limi
Externí odkaz:
https://doaj.org/article/972503d913ba4e5d89b1ba27347069e3
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Abstract Background Trio-based whole-exome sequencing (trio-WES) enables identification of pathogenic variants, including copy-number variants (CNVs), in children with unexplained neurodevelopmental delay (NDD) and neurodevelopmental comorbidities (N
Externí odkaz:
https://doaj.org/article/7d3100ace0f84d93afb968bc3ce64c0d
Autor:
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)
Abstract Background Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due to overlapping cl
Externí odkaz:
https://doaj.org/article/8292fe789fb04f60a6890327d1f87871
Autor:
Vaishnavi Gadwal, V Vinay, Prabhpreet Sethi, Jitendra Kumar Saini, V Yasir Abdullah, Kuljeet Singh, A Swaroon
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 05, Pp 18-22 (2024)
Introduction: Forceps Biopsy (FB) is usually used to obtain tissue in endobronchial lesions through a flexible bronchoscope. The mean diagnostic rate of bronchoscopic FB is 74% in central tumours. A limitation of FB is the small tissue size and the o
Externí odkaz:
https://doaj.org/article/7349c6c791224b8e84f0145d7ceeaf5a
Autor:
Camila Mendes, Thereza Loureiro, Darine Villela, Marcelo Imbroinise Bittencourt, Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciana Santos Serrao de Castro, Rodrigo Ambrosio Fock, Maria Luisa Tinoco, Henrique Galvão, Cristovam Scapulatempo-Neto, Katia Schiavetti, Andreza A. Senerchia, Maria Helane Costa Gurgel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101100- (2024)
Hypertriglyceridemia (HTG) is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. It is well stablished that the severe cases of disease often present with an underlying genetic cause. In this study, we
Externí odkaz:
https://doaj.org/article/950b14b11d1040b4aa4ab142a00a6d70
Autor:
Winston L. Winkler, Ige A. George, Sumanth Gandra, Jonathan C. Baker, Anderanik Tomasian, Benjamin Northrup, Theodore L. Vander Velde, Travis J. Hillen, Chongliang Luo, Resten Imaoka, Gino M. Dettorre, Jack W. Jennings
Publikováno v:
International Journal of Infectious Diseases, Vol 144, Iss , Pp 107027- (2024)
Objectives: The diagnostic yield and clinical impact of image-guided core needle biopsy (ICNB) of suspected vertebral osteomyelitis in adults is heterogenous in published studies owing to small sample sizes, indicating the need for large cohort studi
Externí odkaz:
https://doaj.org/article/84c577f1a3e44c49912b705fecc1d11a
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100286- (2024)
Summary: Genetic testing with exome sequencing and genome sequencing is increasingly offered to infants and children with cardiovascular diseases. However, the rates of positive diagnoses after genetic testing within the different categories of cardi
Externí odkaz:
https://doaj.org/article/6c06b15aec4143bfb132259c13f4e3e8
Autor:
Marija Rozevska, Adine Kanepa, Signe Purina, Linda Gailite, Inga Nartisa, Henriette Farkas, Dmitrijs Rots, Natalja Kurjane
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 20, Iss 1, Pp 1-6 (2024)
Abstract Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific symptoms and overlapping conditions. This study focuses on the genetic basis of HAE, particularly focusing on unresolved cases and those with normal C1
Externí odkaz:
https://doaj.org/article/6ec8b370cd0f4a1d9dbcc22b1ef39911
Publikováno v:
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 60, Iss 1, Pp 1-7 (2024)
Abstract Background The continuous electroencephalogram (cEEG) monitoring is recommended for critical ill patients with altered mental status, The cEEG detects seizure activity and nonconvulsive status epilepticus (NCSE) more efficiently than routine
Externí odkaz:
https://doaj.org/article/41d2c9d9a13d413cb56ed2939f58804e
Autor:
Rafael Paez, Robert J. Lentz, Cristina Salmon, Justin K. Siemann, See-Wei Low, Jonathan D. Casey, Heidi Chen, Sheau-Chiann Chen, Sameer Avasarala, Samira Shojaee, Otis B. Rickman, Christopher J. Lindsell, Cheryl L. Gatto, Todd W. Rice, Fabien Maldonado, for the Vanderbilt Learning Healthcare System Platform Investigators
Publikováno v:
Trials, Vol 25, Iss 1, Pp 1-11 (2024)
Abstract Background Robotic-assisted bronchoscopy has recently emerged as an alternative to electromagnetic navigational bronchoscopy for the evaluation of peripheral pulmonary lesions. While robotic-assisted bronchoscopy is proposed to have several
Externí odkaz:
https://doaj.org/article/0da1e295278d4a62abaf5511ef3477ed